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April 30, 2019; 92 (18) Null HypothesisOpen Access

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Hanns Lochmüller, Anthony Behin, Yoseph Caraco, Heather Lau, Massimiliano Mirabella, Ivailo Tournev, Mark Tarnopolsky, Oksana Pogoryelova, Catherine Woods, Alexander Lai, Jinay Shah, Tony Koutsoukos, Alison Skrinar, Hank Mansbach, Emil Kakkis, Tahseen Mozaffar
First published January 25, 2019, DOI: https://doi.org/10.1212/WNL.0000000000006932
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Article Information

vol. 92 no. 18 e2109-e2117
DOI: 
https://doi.org/10.1212/WNL.0000000000006932
PubMed: 
31036580
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received July 25, 2018
  • Accepted in final form November 20, 2018
  • First Published January 25, 2019.

Article Versions

Copyright & Usage: 
Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Hanns Lochmüller, MD,
    2. Anthony Behin, MD,
    3. Yoseph Caraco, MD,
    4. Heather Lau, MD, MS,
    5. Massimiliano Mirabella, MD,
    6. Ivailo Tournev, MD, DSc,
    7. Mark Tarnopolsky, PhD, MD,
    8. Oksana Pogoryelova, PhD, MD,
    9. Catherine Woods, PhD,
    10. Alexander Lai, PhD, MD,
    11. Jinay Shah, RPh, MS,
    12. Tony Koutsoukos, PhD,
    13. Alison Skrinar, PhD,
    14. Hank Mansbach, MD,
    15. Emil Kakkis, PhD, MD and
    16. Tahseen Mozaffar, MD
  1. Hanns Lochmüller, MD,
    2. Scientific Advisory Boards:

    1. (1) German Duchenne parents project (2)IRDiRC Interdisciplinary Scientific Committee (3)German Muscular Dystrophy Network (4) Myotubular Trust Patient Registry (5) Action Duchenne Patient Registry (6) German PatientRegistries on DMD and SMA

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Journal of Neuromuscular Diseases, Editor in Chief, 2014-current (2)Journal of Neurology, Editorial Board Member, 2007-current

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Consultancies: (1)Roche Pharmaceuticals (2)Ultragenyx Pharmaceutical Inc.(3)AMO Pharma(4)Sarepta(5) Santhera

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. (1) Ultragenyx Pharmaceutical Inc (2) AMO Pharma(3) GW Pharma

    Research Support, Government Entities:

    1. (1)European Commission (RD-Connect), 305444, Coordinator, 2012-2018 (2) European Commission (OPTIMISTIC), 305697, co-investigator, 2012-2016 (3)European Commission (NeurOmics), 305121, co-investigator, 2012-2017 (4)Medical Research Council (MRC), co-investigator, 2013-2018 (5)Wellcome Trust Pathfinder Award, 2016-2017

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. (1)Action Duchenne, (2) Association Francaise Contre les Myopathies (3)British Heart Foundation (4)MuscularDytrophy UK (5)National Cancer Institute (6) Spinal Muscular Atrophy Support UK (7)Wellcome Trust (8)Jennifer Trust (9)Duchenne Parent Project

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Anthony Behin, MD,
    3. Scientific Advisory Boards:

    1. (1) Ultragenyx Pharmaceutical (2) Genzyme

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Ultragenyx pharmaceutical - JNLF 2017, Toulouse

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Yoseph Caraco, MD,
    4. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. 1. Frontier in Transport and Drug metabolism, Associate Editor, 4 years

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1. I acted as a PI in the study sponsored by UltraGenyx described in the current paper. 2. EnteraBio - I am a PI in a study sponsored by EnteraBio for the evaluation of oral PTH 3. MSD - I act as a PI in a study aimed to evaluate CMV vaccine 4. Novartis - I act as a PI in a study sponsored by Novartis to study the effect of investigational product on anemia among hemodialysis patients

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Heather Lau, MD, MS,
    5. Scientific Advisory Boards:

    1. 1. National Tay Sachs and Allied Diseases Scientific Advisory Board 2. Adult Polyglucosan Body Disorder Foundation Scientific Advisory Board 3. Shire Advisory Board 4. Sanofi Genzyme Advisory Board

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1. Amicus - travel/honoraria 2. Actelion travel 3. Biomarin travel/honoraria 4. Chiesi travel/honoraria 5. Indorsia travel/honoraria 6. Pfizer travel/honoraria 7. Prevail Therapeutics travel 8. Sanofi Genzyme travel/honoraria 9. Ultragenyx travel/honoraria

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1. Sanofi Genzyme 2. Pfizer 3. Actelion 4. Ultragenyx 5. Shire 6. Prevail therapeutics 7. Amicus 8. Chiesi

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1. Sanofi Genzyme 2. Shire 3. Amicus 4. Mallinckrodt 5. Biomarin 6. Ultragenyx 7. Pfizer 8. Protalix 9. Sangamo

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. National Tay Sachs and Allied Diseases Foundation Grant

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Massimiliano Mirabella, MD,
    6. Scientific Advisory Boards:

    1. Bayer Schering, Biogen, Sanofi-Genzyme, Merck Serono, Novartis, Teva

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Almirall, Bayer Schering, Biogen, CSL Behring, Sanofi-Genzyme, Merck Serono, Novartis, Teva, Ultragenix

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other activities:

    1. scientific advisory board membership of Bayer Schering, Biogen, Sanofi- Genzyme, Merck Serono,Novartis, Teva; consulting and/or speaking fees, research support or travel grants from Almirall, Bayer Schering, Biogen, CSL Behring, Sanofi-Genzyme, Merck Serono, Novartis, Teva, Ultragenix; principal investigator in clinical trials for Biogen, Merck Serono, Novartis, Roche, Sanofi Genzyme, Teva, Ultragenix.

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Ivailo Tournev, MD, DSc,
    7. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Mark Tarnopolsky, PhD, MD,
    8. Scientific Advisory Boards:

    1. Genzyme - North American Registry Board.

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. 1) Sanofi/Genzyme - 1-3 talks/year on mitochondrial and neuromuscular disease (2012-present).

    Editorial Boards:

    1. Editorial board of Mitochondrion.

    Patents:

    1. 1. US and Canadian patent pending - The use of IL-15 in metabolic disorders.

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. CEO and CSO of Exerkine Corporation - We are working on protein delivery systems and nutritional approaches for neurological genetic disorders, obesity and aging. I receive no remuneration but have shares in the company.

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Genzyme Canada - Pompe study 2012-2014 - no personal remuneration - research costs only.

    Research Support, Government Entities:

    1. NSERC, Principle Investigator 2012-2017 - Multi-systemic benefits of exercise. CIHR, Principle Investigator 2012-current - Exosomes as mediators of the multi-systemic benefits of exercise.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Barth Syndrome - Scientific Advisory Board (2015-present). Stock/Stock Options, Medical Equipment & Materials: 1. Exerkine - stockholder.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  8. Oksana Pogoryelova, PhD, MD,
    9. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Catherine Woods, PhD,
    10. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx Pharmaceutical Inc., Senior Manager Medical Writing, May 2017-current (1.5 years).

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. Ultragenyx Pharmaceutical Inc., 1.5 years

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  10. Alexander Lai, PhD, MD,
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx Pharmaceutical Inc., Senior Medical Director, 2 years approximately Stock/Stock Options, Medical Equipment & Materials: Ultragenyx Pharmaceutical Inc., 2 years approximately

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  11. Jinay Shah, RPh, MS,
    12. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx Pharmaceutical Inc; Associate Director, Global Clinical Development; September 2015 to present

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  12. Tony Koutsoukos, PhD,
    13. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx Pharmaceutical inc VP Biostatistics 5 years

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. I am an Ultragenyx Pharmaceutical salary employee.

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  13. Alison Skrinar, PhD,
    14. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Employee of Ultragenyx Pharmaceutical Inc from March 2012 - present

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. Stock holder of Ultragenyx Pharmaceutical Inc., the sponsor of the study

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  14. Hank Mansbach, MD,
    15. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx; VP, Global Clinical Development; 3.5 years

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. Ultragenyx

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  15. Emil Kakkis, PhD, MD and
    16. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. Extended release sialic acid drug technology

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Ultragenyx Pharmaceutical, Chief Executive Officer, 8 years

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. Ultragenyx Pharmaceutical, stock ownership as employee and as founder

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  16. Tahseen Mozaffar, MD
    17. Scientific Advisory Boards:

    1. On Medical and Scientific Advisory Board for the Myositis Association, Amicus, Biomarin, Genzyme, Idera Pharmaceuticals, and Ultragenyx

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Received travel reimbursement for advisory board meeting for 1) Genzyme Corporation; 2) Biomarin; and 3) Amicus

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. 1) Commercial or non-profit entity: Amicus, 2) Commercial or non-profit entity: Biomarin, 3) Commercial or non-profit entity: Genzyme, 4) Commercial or non-profit entity: Sarepta and 5) Commercial or non-profit entity: Ultragenyx 6) Commercial or non-profit entity: OptionCare 7) Commercial or non-profit entity: Spark Therapeutics

    Speakers' Bureaus:

    1. 1) Commercial or non-profit entity: Genzyme Corporation 2) Commercial or non-profit entity: Grifols

    Other activities:

    1. received financial support from NuFACTOR, Inc. during the course of this study.

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. 1) Commercial or non-profit entity: Alnylam 2) Commercial or non-profit entity: Alexion 3) Commercial or non-profit entity: Amicus 4) Commercial or non-profit entity: Biomarin 5) Commercial or non-profit entity: CSL Behring 6) Commercial or non-profit entity: Genzyme 7) Commercial or non-profit entity: Ionis 8) Commercial or non-profit entity: GSK 9) Commercial or non-profit entity: Novartis 10) Commercial or non-profit entity: Ultragenyx 11) Commercial or non-profit entity: Grifols 12) Commercial or non-profit entity: Octapharma

    Research Support, Government Entities:

    1. NIH Funding (co-investigator on R01NS049203) 2009-2014

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Institute of Genetic Medicine (H.L., O.P.), Newcastle University, Newcastle upon Tyne, UK; Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa; Division of Neurology, Department of Medicine (H.L.), The Ottawa Hospital, Canada; APHP (A.B.), Centre de Référence de Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Hadassah Clinical Research Center (Y.C.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neurology, Division of Neurogenetics (H.L.), NYU School of Medicine, New York, NY; Fondazione Policlinico Universitario A. Gemelli IRCCS (M.M.), Catholic University, Rome, Italy; Expert Center of Genetic Neurologic and Metabolic Disorders (I.T.), University Hospital Aleksandrovska, Sofia; Department of Neurology (I.T.), Medical University Sofia; Department of Cognitive Science and Psychology (I.T.), New Bulgarian University, Sofia, Bulgaria; Department of Pediatrics, Neuromuscular and Neurometabolic Clinic (M.T.), McMaster University Medical Center, Hamilton, Canada; Ultragenyx Pharmaceutical Inc. (C.W., A.L., J.S., T.K., A.S., H.M., E.K.), Novato, CA; and University of California Irvine (T.M.), Orange. H.L. is currently affiliated with the Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Germany.
  1. Correspondence
    Dr. Lochmüller hanns.lochmuller{at}gmail.com

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